Imagine receiving a custom-tailored roadmap to your health that captures the complexity of your family history, environmental factors, and entire genetic code combined. In the ever-evolving landscape of healthcare, precision health has emerged as a groundbreaking approach that is making this a reality. This new paradigm departs from a ‘one-size-fits-all’ model by using tools like genomics to holistically manage the unique nuance of every individual’s healthcare, from prevention to treatment.
The implications of precision health are huge, especially for patients suffering from rare diseases, cancers and heart diseases. Although only 1 in 2000 people will be diagnosed with a given rare disease over their lifetime, there are over 7000 known rare diseases. 80% of these are genetic and 50% occur with no family history, making traditional diagnosis challenging. In Canada, about three million people (1 in 12) are diagnosed with a rare disease (more than with all cancers, cardiovascular disease or diagnosed diabetes), two thirds of whom are children.
Alysha is one of these children. When she arrived at the Alberta Children’s Hospital with her parents, her kidneys were functioning at only four percent. Initial tests uncovered two kidney abnormalities, which perplexed doctors. It is rare to see both together, let alone in someone as young as five-year-old Alysha.
Doctors suggested genomic testing to get to the bottom of Alysha’s symptoms. Genomic testing is an important precision health tool which can sequence a patient’s unique genetic code using one blood sample. This code plots out a patient’s inherited disorders, diseases and mutations, which can help healthcare providers pinpoint the cause of a condition. With support from Genome Canada, the full set of 20,000 of Alysha’s genes were sequenced.
Bingo! Ten days after her initial hospital visit, Alysha and her parents had an answer. The testing had uncovered a mutation on Alysha’s TRIM8 gene, expressed in her kidneys and nervous system. Not only did genomics provide Alysha’s family with answers, but they also now had a road map for what to expect, how to treat the rare disease and the genetic mutation that caused it. Through this sequencing and diagnosis Alysha was able to get a successful kidney transplant and return to the important job of being a kid. In addition to this great outcome, the new data has also provided scientists and doctors with more information about the genetic relationship to the disease which they can now use to help more patients in the future.
Alysha’s diagnosis timeline is not the norm for many rare disease patients. In Alberta, approximately 25% of these patients experience an over five-year diagnosis delay. Genome Canada and Genome Alberta are fighting this statistic through multiple initiatives working to bring the standard of care that Alysha experienced to all.
Genome Canada’s All for One initiative is a nation-wide program, backed by $39 million in funding, aimed at harnessing the power of genome sequencing to diagnose and treat genetic and rare diseases for a broader set of the patient population. The initiative ultimately intends to make precision health tools accessible and widespread by strengthening regional genomics capacities and improving nation-wide genomics data.
Under the All for One initiative Genome Alberta is currently funding the TIGeR project. Currently, large-scale genome sequencing is not available in Alberta, and we are relying on commercial labs outside the province to provide the service. The TIGeR project asks to what degree making clinical genomic testing available in Alberta would make diagnosis more efficient, straightforward and cost-effective for Albertans and the healthcare system.
Additionally, the C4R-Solve project, which is co-led by Genome Alberta, is working on new sequencing technologies and better data sharing to understand rare diseases without a known cause. These diseases represent one-third of the 7,000 rare genetic diseases in Canada and affect hundreds of thousands of Canadians. By achieving its goal, the C4R-Solve project could more than double our ability to diagnose these patients, both across Canada and globally.
Not only will precision health accelerate diagnosis and help physicians tailor more effective treatments, but it will have a significant economic benefit for the healthcare system and patients. According to the Canadian Organization for Rare Disorders (CORD), rare diseases cost the Canadian economy $111 billion annually in medical costs, nonmedical costs and productivity costs combined. Studies have shown that using newborn genomic testing can save between $130,000 and $1.3 million per patient in reduced hospital time, decreased procedures and more tailored treatment.
Could precision health chart the path to more efficient, effective and custom-fit diagnosis and treatment for all? Alysha’s success story suggests that we are moving in the right direction. With ever-improving data processing capabilities and better genomic sequencing technologies, the tools for applying the precision health approach are improving every year, carving an exciting path forward for the future of healthcare.
You can learn more about the All For One Initiative on the Genome Canada’s website.
To learn more about the TIGeR project, follow this link.
To learn more about the C4R-Solve project, follow this link.
Thank you to the Somji Family for sharing their story, originally printed in April 25, 2022.
